The limb-girdle muscular dystrophies (LGMDs) encompass a collection of genetic muscle diseases with proximal-predominant weakness of the limbs. Thirty-two of these disorders are named via the common nomenclature, including 8 autosomal-dominant (LGMD1A-H) and 24 autosomal-recessive (LGMD2A-X) disorders.(1) In addition, numerous other genetic muscle diseases, including Bethlem myopathy, dystrophi...

We used whole-exome and targeted sequencing to characterize somatic mutations in 103 colorectal cancers (CRC) from African Americans, identifying 20 new genes as significantly mutated in CRC. Resequencing 129 Caucasian derived CRCs confirmed a 15-gene set as a preferential target for mutations in African American CRCs. Two predominant genes, ephrin type A receptor 6 (EPHA6) and folliculin (FLCN...

Since the start of Severe Acute Respiratory Syndrom Coronavirus 2 (SARS-CoV-2) pandemic, several thousand variants circulated and others are emerging. Therefore, genomic surveillance is crucial, which aims to detect emergence new variants, in particular Variants Concern (VOC) assess impact priority mutations on transmissibility lethality virus, performance viral diagnostic methods vaccine effic...

A mutational spectrum for exons 5-8 of the p53 tumor suppressor gene in colorectal carcinomas in Hong Kong Chinese was established. Ninety-nine colorectal carcinomas from Hong Kong patients were analyzed for mutations in p53 gene by PCR-single-strand conformation polymorphism analysis and direct DNA sequencing. Thirty-five of the 99 tumors (35.4%) contained mutations. Point mutations accounted ...

We performed this retrospective study to assess the association of epidermal growth factor receptor (EGFR) with metastatic presentations in advanced non-small cell lung cancer (NSCLC). The data from 125 patients with stage III or IV NSCLC were analyzed. We detected EGFR mutations in 36 NSCLC patients. EGFR mutations were predominant in never-smokers (P < .001), patients with adenocarcinomas (P ...

A mutational spectrum for exons 5-8 of the p53 tumor suppressor gene in colorectal carcinomas in Hong Kong Chinese was established. Ninety-nine colorectal carcinomas from Hong Kong patients were analyzed for mutations in p53 gene by PCR-single-strand conformation polymorphism analysis and direct DNA sequencing. Thirty-five of the 99 tumors (35.4%) contained mutations. Point mutations accounted ...

Sporadic colon carcinomas, carcinomas arising in chronic ulcerative colitis, and pancreatic adenocarcinomas have been analyzed for the presence of c-Ki-ras mutations by a combination of histological enrichment, cell sorting, polymerase chain reaction, and direct sequencing. Although 60% (37/61) of sporadic colon carcinomas contained mutations in codon 12, only 1 of 17 specimens of dysplasia or ...

Nodular lymphocyte-predominant Hodgkin's lymphoma (NLPHL) shows constitutive NF-kappaB activity in the malignant lymphocyte-predominant (LP) cells. Constitutive NF-kappaB activity also plays a central pathogenetic role in classical Hodgkin's lymphoma (cHL), where inactivating mutations in the NFKBIA and TNFAIP3 genes, coding for the negative NF-kappaB regulators IkappaBalpha and A20, respective...

BACKGROUND The relationship between epidermal growth factor receptor (EGFR) gene mutation status, preoperative computed tomography (CT), and clinical features in patients with small peripheral lung adenocarcinoma (<3 cm) was investigated. METHODS We included 209 patients who underwent surgical resection for stage I or II lung adenocarcinoma at Nanjing General Hospital between December 2010 an...